DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

1. Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, et al. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet Med. 2009; 11(9): 611-616.10.1097/GIM.0b013e3181b2e34cSearch in Google Scholar

2. Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959; 183(4547): 302-303.Search in Google Scholar

3. Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012; 98(2): 253-260.10.1016/j.fertnstert.2012.06.019Search in Google Scholar

4. Kovaleva NV, Mutton DE. Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes. Am J Med Genet A. 2005; 134A(1): 24-32.10.1002/ajmg.a.30306Search in Google Scholar

5. Ford CE, Jones KW, Miller OJ, Mittwoch U, Penrose LS, Ridler M, et al. The chromosomes in a patient showing both mongolism and Klinefelter syndrome. Lancet. 1959; 1(7075): 709-710.10.1016/S0140-6736(59)91891-4Search in Google Scholar

6. Hook EB, Cross PK, Schreinemachers DM. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA. 1983; 249(15): 2034-2038.10.1001/jama.1983.03330390038028Search in Google Scholar

7. Iliopoulos D, Poultsides G, Peristeri V, Kouri G, Andreou A, Voyiatzis N. Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature. Ann Genet. 2004; 47(1): 95-98.10.1016/j.anngen.2003.08.02515050879Search in Google Scholar

8. Hecht F, Nievaard JE, Duncanson N, Miller JR, Higgins JV, Kimberling WJ, et al. Double aneuploidy: the frequency of XXY in males with Down’s syndrome. Am J Hum Genet. 1969; 21(4): 352-359.Search in Google Scholar

9. Efinski D, Duma H, Apostolovski B, Sofijanov N, Ristevski B, Darkovski S. Klinefelter’s and Down’s syndrome in an adolescent with abnormal EEG. Clin Genet. 1974; 5(2): 81-85.10.1111/j.1399-0004.1974.tb01665.x4275247Search in Google Scholar

10. Akbas E, Soylemez F, Savasoglu K, Halliogluand O, Balci S. A male case with double aneuploidy (48, XXY, +21). Genet Couns. 2008; 19(1): 59-63.Search in Google Scholar

11. Biselli JM, Machado FB, Zampieri BL, Alves da Silva AF, Goloni-Bertollo EM, Haddad R, et al. Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism. Genet Couns. 2009; 20(3): 225-234.Search in Google Scholar

12. Jeanty C, Turner C. Prenatal diagnosis of double aneuploidy, 48, XXY,+21, and review of the literature. J Ultrasound Med. 2009; 28(5): 673-681.10.7863/jum.2009.28.5.67319389908Search in Google Scholar

13. Shen Z, Zou CC, Shang SQ, Jiang KW. Down- Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review. Intern Med. 2012; 51(11): 1371-1374.10.2169/internalmedicine.51.709722687844Search in Google Scholar

14. Gerretsen MF, Peelen W, Rammeloo LA, Koolbergen DR, Hruda J. Double aortic arch with double aneuploidy - rare anomaly in combined Down and Kline-felter syndrome. Eur J Pediatr. 2009;168(12): 1479-1481.10.1007/s00431-009-0958-4277296019263078Search in Google Scholar

15. Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, et al.; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23): 3015-3038.10.1161/CIRCULATIONAHA.106.18305617519398Search in Google Scholar

16. Greene AK, Kim S, Rogers GF, Fishman SJ, Olsen BR, Mulliken JB. Risk of vascular anomalies with Down syndrome. Pediatrics. 2008; 121(1): e135-e140. 10.1542/peds.2007-131618166531Search in Google Scholar